+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 52

+ Genes associated with diseases 7

Genes at Omim

AQP7, CYP2D6, GGT1, HLA-DRB1, IGSF3, MUC5B, TUBA3D,
AQP7 [Glycerol quantitative trait locus], 614411 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
GGT1 ?Glutathioninuria, 231950 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
TUBA3D Keratoconus 9, 617928 (3)

Genes at Clinical Genomics Database

CYP2D6, IGSF3,
CYP2D6 Drug metabolism, CYP2CD6-related
IGSF3 Lacrimal duct defect

Genes at HGMD

Summary

Number of Variants: 297
Number of Genes: 52

Export to: CSV

AQP7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 9 rs62542744
dbSNP Clinvar 		33385808 1418.6 G T CNN_1D_SNP_Tranche_99.95_100.00 0/1 442 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None AQP7|0.012677613|78.76%
View h06400082-ib-ex-60-1795_s23 soft_filtered 9 rs202183465
dbSNP Clinvar 		33385852 2457.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 383 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.05 None None None None None None AQP7|0.012677613|78.76%
View h06400082-ib-ex-60-1795_s23 soft_filtered 9 rs73478963
dbSNP Clinvar 		33385828 2673.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 430 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00100 0.00100 0.02 0.16 None None None None None None AQP7|0.012677613|78.76%
View h06400082-ib-ex-60-1795_s23 soft_filtered 9 rs62542745
dbSNP Clinvar 		33385815 1433.6 T C CNN_1D_SNP_Tranche_99.95_100.00 0/1 443 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20 0.02 None None None None None None AQP7|0.012677613|78.76%

CDC27
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs74925848
dbSNP Clinvar 		45234404 44593.03 T G CNN_1D_SNP_Tranche_99.95_100.00 1/1 1056 SYNONYMOUS_CODING LOW SILENT None None None None None None CDC27|0.658499283|9.78%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs75184508
dbSNP Clinvar 		45234403 38431.05 T G CNN_1D_SNP_Tranche_99.95_100.00 1/1 1097 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64 0.00 None None None None None None CDC27|0.658499283|9.78%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs201009764
dbSNP Clinvar 		45214559 1327.6 A G CNN_1D_SNP_Tranche_99.95_100.00 0/1 453 SYNONYMOUS_CODING LOW SILENT None None None None None None CDC27|0.658499283|9.78%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs3208659
dbSNP Clinvar 		45234343 42612.03 T G CNN_1D_SNP_Tranche_99.95_100.00 1/1 1581 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16 0.52 None None None None None None CDC27|0.658499283|9.78%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs62077264
dbSNP Clinvar 		45234360 64344.03 A C CNN_1D_SNP_Tranche_99.95_100.00 1/1 1557 STOP_GAINED HIGH NONSENSE None None None None None None CDC27|0.658499283|9.78%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs75241171
dbSNP Clinvar 		45234434 22002.03 A G CNN_1D_SNP_Tranche_99.95_100.00 1/1 504 SYNONYMOUS_CODING LOW SILENT None None None None None None CDC27|0.658499283|9.78%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs78072949
dbSNP Clinvar 		45234430 25193.03 A G CNN_1D_SNP_Tranche_99.95_100.00 1/1 599 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16 0.00 None None None None None None CDC27|0.658499283|9.78%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs78493795
dbSNP Clinvar 		45234420 33256.03 T G CNN_1D_SNP_Tranche_99.95_100.00 1/1 724 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39 0.00 None None None None None None CDC27|0.658499283|9.78%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs74628496
dbSNP Clinvar 		45234416 34808.03 A G CNN_1D_SNP_Tranche_99.95_100.00 1/1 807 SYNONYMOUS_CODING LOW SILENT None None None None None None CDC27|0.658499283|9.78%

CRIPAK
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 4 rs71614972
dbSNP Clinvar 		1389156 16012.03 T C CNN_1D_SNP_Tranche_99.95_100.00 1/1 843 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75859 0.75860 0.30 0.00 None None None None None None CRIPAK|0.000914016|95.95%
View h06400082-ib-ex-60-1795_s23 soft_filtered 4 rs9328733
dbSNP Clinvar 		1388583 20424.03 A G CNN_1D_SNP_Tranche_99.95_100.00 1/1 754 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77197 0.77200 0.23774 0.08 0.00 None None None None None None CRIPAK|0.000914016|95.95%

CTBP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 10 rs76370804
dbSNP Clinvar 		126678128 9437.6 T A CNN_1D_SNP_Tranche_99.95_100.00 0/1 447 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39 0.06 None None None None None None CTBP2|0.585435328|12.33%
View h06400082-ib-ex-60-1795_s23 soft_filtered 10 rs200173220
dbSNP Clinvar 		126691608 1636.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 258 SYNONYMOUS_CODING LOW SILENT None None None None None None CTBP2|0.585435328|12.33%

CYP2D6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 22 rs1058172
dbSNP Clinvar 		42523528 2713.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 470 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.01 1.00 None None None None None None CYP2D6|0.040319287|65.66%

EPPK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 8 rs4977191
dbSNP Clinvar 		144940300 14183.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 1238 SYNONYMOUS_CODING LOW SILENT None None None None None None EPPK1|0.004907463|85.91%

FFAR3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 19 rs62109581
dbSNP Clinvar 		35849926 2911.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 519 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20072 0.17 0.09 None None None None None None FFAR3|0.007391338|83.15%

FRG2C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 3 rs78464633
dbSNP Clinvar 		75714935 4015.6 C A CNN_1D_SNP_Tranche_99.95_100.00 0/1 536 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19 0.14 None None None None None None FRG2C|0.000891988|96.07%
View h06400082-ib-ex-60-1795_s23 soft_filtered 3 rs75138472
dbSNP Clinvar 		75714917 4537.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 505 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.00 None None None None None None FRG2C|0.000891988|96.07%
View h06400082-ib-ex-60-1795_s23 soft_filtered 3 rs77371781
dbSNP Clinvar 		75714809 1493.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 378 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23 0.00 None None None None None None FRG2C|0.000891988|96.07%
View h06400082-ib-ex-60-1795_s23 soft_filtered 3 rs74497996
dbSNP Clinvar 		75714819 1029.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 368 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21 0.00 None None None None None None FRG2C|0.000891988|96.07%
View h06400082-ib-ex-60-1795_s23 soft_filtered 3 rs138192454
dbSNP Clinvar 		75714831 1383.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 380 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.00 None None None None None None FRG2C|0.000891988|96.07%
View h06400082-ib-ex-60-1795_s23 soft_filtered 3 rs150744016
dbSNP Clinvar 		75714835 1578.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 390 SYNONYMOUS_CODING LOW SILENT None None None None None None FRG2C|0.000891988|96.07%
View h06400082-ib-ex-60-1795_s23 soft_filtered 3 rs73840339
dbSNP Clinvar 		75715118 6278.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 467 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.00 None None None None None None FRG2C|0.000891988|96.07%
View h06400082-ib-ex-60-1795_s23 soft_filtered 3 rs79024020
dbSNP Clinvar 		75715033 2558.6 T C CNN_1D_SNP_Tranche_99.95_100.00 0/1 597 SYNONYMOUS_CODING LOW SILENT None None None None None None FRG2C|0.000891988|96.07%
View h06400082-ib-ex-60-1795_s23 soft_filtered 3 rs78599742
dbSNP Clinvar 		75714980 3138.6 C A CNN_1D_SNP_Tranche_99.95_100.00 0/1 609 SYNONYMOUS_CODING LOW SILENT None None None None None None FRG2C|0.000891988|96.07%
View h06400082-ib-ex-60-1795_s23 soft_filtered 3 rs62247960
dbSNP Clinvar 		75714976 4854.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 602 SYNONYMOUS_CODING LOW SILENT None None None None None None FRG2C|0.000891988|96.07%
View h06400082-ib-ex-60-1795_s23 soft_filtered 3 rs13096122
dbSNP Clinvar 		75714971 1549.6 C A CNN_1D_SNP_Tranche_99.95_100.00 0/1 591 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15 0.73 None None None None None None FRG2C|0.000891988|96.07%
View h06400082-ib-ex-60-1795_s23 soft_filtered 3 rs73840338
dbSNP Clinvar 		75714950 3487.6 C A CNN_1D_SNP_Tranche_99.95_100.00 0/1 559 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.99 None None None None None None FRG2C|0.000891988|96.07%
View h06400082-ib-ex-60-1795_s23 soft_filtered 3 rs78080695
dbSNP Clinvar 		75714937 4061.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 529 SYNONYMOUS_CODING LOW SILENT None None None None None None FRG2C|0.000891988|96.07%
View h06400082-ib-ex-60-1795_s23 soft_filtered 3 rs75980922
dbSNP Clinvar 		75714929 4125.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 532 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52 0.91 None None None None None None FRG2C|0.000891988|96.07%

GGT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 22 rs71318991
dbSNP Clinvar 		25023492 1899.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 363 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00599 0.00599 0.01025 0.33 0.07 None None None None None None GGT1|0.044291903|64.4%
View h06400082-ib-ex-60-1795_s23 soft_filtered 22 rs138813205
dbSNP Clinvar 		25023459 1972.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 362 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70 0.00 None None None None None None GGT1|0.044291903|64.4%
View h06400082-ib-ex-60-1795_s23 soft_filtered 22 rs372075694
dbSNP Clinvar 		25023513 1956.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 340 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22 0.01 None None None None None None GGT1|0.044291903|64.4%
View h06400082-ib-ex-60-1795_s23 soft_filtered 22 rs201397128
dbSNP Clinvar 		25023471 1950.6 C A CNN_1D_SNP_Tranche_99.95_100.00 0/1 365 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29 0.06 None None None None None None GGT1|0.044291903|64.4%

GOLGA6L2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 15 rs111853398
dbSNP Clinvar 		23685895 4124.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 395 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.00 None None None None None None GOLGA6L2|0.000844228|96.42%

HLA-DRB1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 6 rs9270303
dbSNP Clinvar 		32557483 10630.6 T C CNN_1D_SNP_Tranche_99.95_100.00 0/1 434 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77915 0.77920 1.00 0.00 None None None None None None HLA-DRB1|0.032266025|68.49%
View h06400082-ib-ex-60-1795_s23 soft_filtered 6 rs9270301
dbSNP Clinvar 		32557478 1608.6 C A CNN_1D_SNP_Tranche_99.95_100.00 0/1 431 SYNONYMOUS_CODING LOW SILENT 0.36402 0.36400 None None None None None None HLA-DRB1|0.032266025|68.49%

HNRNPCL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 1 rs149302457
dbSNP Clinvar 		12907400 1007.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 324 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.99 None None None None None None HNRNPCL1|0.00215099|90.59%
View h06400082-ib-ex-60-1795_s23 soft_filtered 1 rs146075045
dbSNP Clinvar 		12907408 915.6 T A CNN_1D_SNP_Tranche_99.95_100.00 0/1 326 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None HNRNPCL1|0.00215099|90.59%

HRNR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 1 rs61814940
dbSNP Clinvar 		152188109 3154.6 T A CNN_1D_SNP_Tranche_99.95_100.00 0/1 453 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.21 None None None None None None HRNR|0.000187528|99.8%
View h06400082-ib-ex-60-1795_s23 soft_filtered 1 rs77464974
dbSNP Clinvar 		152188176 1670.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 640 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19 0.20 None None None None None None HRNR|0.000187528|99.8%

IGSF3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 1 rs61786568
dbSNP Clinvar 		117142855 3643.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 450 SYNONYMOUS_CODING LOW SILENT 0.00080 0.00080 0.00038 None None None None None None IGSF3|0.084306798|54.35%
View h06400082-ib-ex-60-1795_s23 soft_filtered 1 rs61730489
dbSNP Clinvar 		117142868 3220.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 403 STOP_GAINED HIGH NONSENSE None None None None None None IGSF3|0.084306798|54.35%
View h06400082-ib-ex-60-1795_s23 soft_filtered 1 rs78806598
dbSNP Clinvar 		117142869 6141.6 A G CNN_1D_SNP_Tranche_99.95_100.00 0/1 401 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.91 0.00 None None None None None None IGSF3|0.084306798|54.35%
View h06400082-ib-ex-60-1795_s23 soft_filtered 1 rs75947003
dbSNP Clinvar 		117142700 1653.6 C A CNN_1D_SNP_Tranche_99.95_100.00 0/1 377 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.68 None None None None None None IGSF3|0.084306798|54.35%

KCNJ12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs1657742
dbSNP Clinvar 		21319230 6063.6 G C CNN_1D_SNP_Tranche_99.95_100.00 0/1 662 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.01 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs73979896
dbSNP Clinvar 		21319208 3270.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 629 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.37 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs73313922
dbSNP Clinvar 		21319171 2614.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 644 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32 1.00 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs1714864
dbSNP Clinvar 		21319121 4703.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 608 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 1.00 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs77283567
dbSNP Clinvar 		21319110 4565.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 597 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs75029097
dbSNP Clinvar 		21319087 5188.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 565 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.03 1.00 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs76518282
dbSNP Clinvar 		21319079 5116.6 C A CNN_1D_SNP_Tranche_99.95_100.00 0/1 550 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.94 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs76265595
dbSNP Clinvar 		21319069 4737.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 524 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 1.00 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs9909970
dbSNP Clinvar 		21318981 4883.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 525 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs79666990
dbSNP Clinvar 		21318969 5695.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 547 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs75757803
dbSNP Clinvar 		21318951 6056.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 568 SYNONYMOUS_CODING LOW SILENT 0.00499 0.00499 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs112314728
dbSNP Clinvar 		21318948 5870.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 573 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs79626424
dbSNP Clinvar 		21318918 6154.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 631 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs35011501
dbSNP Clinvar 		21318912 6207.6 C A CNN_1D_SNP_Tranche_99.95_100.00 0/1 640 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs1657739
dbSNP Clinvar 		21318897 3920.6 G C CNN_1D_SNP_Tranche_99.95_100.00 0/1 636 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs73979893
dbSNP Clinvar 		21318867 3394.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 629 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs1714865
dbSNP Clinvar 		21318821 3798.6 A C CNN_1D_SNP_Tranche_99.95_100.00 0/1 637 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.34146 0.81 0.07 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs78117732
dbSNP Clinvar 		21318782 3880.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 658 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.08 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs1657738
dbSNP Clinvar 		21318698 3988.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 622 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.18 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs72846666
dbSNP Clinvar 		21318663 3521.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 525 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs78547883
dbSNP Clinvar 		21319786 3880.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 405 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.84 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs80203231
dbSNP Clinvar 		21319682 3785.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 733 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.15 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs74801394
dbSNP Clinvar 		21319560 7035.6 G T CNN_1D_SNP_Tranche_99.95_100.00 0/1 791 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38 0.62 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs80335301
dbSNP Clinvar 		21319543 6789.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 787 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.14 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs1657744
dbSNP Clinvar 		21319473 5115.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 649 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs76493573
dbSNP Clinvar 		21319470 4967.6 T C CNN_1D_SNP_Tranche_99.95_100.00 0/1 635 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs77724065
dbSNP Clinvar 		21319465 5208.6 T C CNN_1D_SNP_Tranche_99.95_100.00 0/1 642 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs76684759
dbSNP Clinvar 		21319439 6200.6 T G CNN_1D_SNP_Tranche_99.95_100.00 0/1 668 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.99 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs73313929
dbSNP Clinvar 		21319452 5583.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 640 SYNONYMOUS_CODING LOW SILENT 0.00319 0.00320 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs77270326
dbSNP Clinvar 		21319436 6113.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 662 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 1.00 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs16962951
dbSNP Clinvar 		21319407 6870.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 660 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs73979899
dbSNP Clinvar 		21319392 7390.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 657 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs77048459
dbSNP Clinvar 		21319369 7077.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 645 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.17 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs72846668
dbSNP Clinvar 		21319311 4345.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 668 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs1657743
dbSNP Clinvar 		21319302 15548.6 T C CNN_1D_SNP_Tranche_99.95_100.00 0/1 668 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs72846667
dbSNP Clinvar 		21319285 8299.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 652 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.55 None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs73313926
dbSNP Clinvar 		21319272 8845.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 663 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs73313923
dbSNP Clinvar 		21319251 8021.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 649 SYNONYMOUS_CODING LOW SILENT 0.00040 0.00040 None None None None None None KCNJ12|0.437556296|18.82%

KRTAP10-11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 21 rs462007
dbSNP Clinvar 		46067180 5875.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 537 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81609 0.81610 0.15841 0.03 0.90 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-11|0.003274675|88.13%

KRTAP10-6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 21 rs233303
dbSNP Clinvar 		46011583 5213.6 G T CNN_1D_SNP_Tranche_99.95_100.00 0/1 507 STOP_GAINED HIGH NONSENSE 0.21625 0.21630 0.21621 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-6|0.002193363|90.43%

KRTAP16-1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs72828119
dbSNP Clinvar 		39464779 6317.6 T C CNN_1D_SNP_Tranche_99.95_100.00 0/1 563 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06689 0.06689 0.07 0.00 None None None None None None KRTAP16-1|0.011533267|79.55%

KRTAP4-11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs11654403
dbSNP Clinvar 		39274235 1526.04 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 437 SYNONYMOUS_CODING LOW SILENT 0.29313 0.29310 None None None None None None KRTAP4-11|0.005077297|85.71%

KRTAP4-2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs389784
dbSNP Clinvar 		39334133 6133.6 T C CNN_1D_SNP_Tranche_99.95_100.00 0/1 534 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95208 0.95210 0.07049 1.00 0.00 None None None None None None KRTAP4-2|0.004000339|87.02%

KRTAP4-6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs773343562
dbSNP Clinvar 		39296167 2908.6 A G CNN_1D_SNP_Tranche_99.95_100.00 0/1 503 SYNONYMOUS_CODING LOW SILENT None None None None None None KRTAP4-6|0.003855865|87.22%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs72483263
dbSNP Clinvar 		39296254 8239.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 861 SYNONYMOUS_CODING LOW SILENT None None None None None None KRTAP4-6|0.003855865|87.22%

KRTAP5-3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 11 rs60210378
dbSNP Clinvar 		1628992 8293.6 G A CNN_1D_SNP_Tranche_99.95_100.00 0/1 518 SYNONYMOUS_CODING LOW SILENT 0.46106 0.46110 None None None None None None KRTAP5-3|0.005886774|84.7%

KRTAP9-2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs71371478
dbSNP Clinvar 		39383027 1232.6 G T CNN_1D_SNP_Tranche_99.95_100.00 0/1 505 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None KRTAP9-2|0.002317479|90.14%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs9903833
dbSNP Clinvar 		39383012 3175.6 C T CNN_1D_SNP_Tranche_99.95_100.00 0/1 493 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59 0.03 None None None None None None KRTAP9-2|0.002317479|90.14%
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs11078986
dbSNP Clinvar 		39382942 1449.6 C A CNN_1D_SNP_Tranche_99.95_100.00 0/1 392 SYNONYMOUS_CODING LOW SILENT None None None None None None KRTAP9-2|0.002317479|90.14%

KRTAP9-3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 17 rs1860551
dbSNP Clinvar 		39388852 5309.6 T C CNN_1D_SNP_Tranche_99.95_100.00 0/1 502 SYNONYMOUS_CODING LOW SILENT 0.95887 0.95890 0.06566 None None None None None None KRTAP9-3|0.001475925|92.88%

LILRA6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400082-ib-ex-60-1795_s23 soft_filtered 19 rs8105096
dbSNP Clinvar 		54744209 4129.6 T C CNN_1D_SNP_Tranche_99.95_100.00 0/1 553 None None None 0.05072 0.05072 0.17 0.00 None None None None None None RPS9|0.191676848|37.63%,LILRB3|0.000716345|97.17%,LILRA6|0.000800257|96.65%